An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
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S. Regis | F. Corsolini | M. Filocamo | F. Caroli | O. Diggelen | J. Keulemans | R. Gatti